Canonical Allele Identifier: CA394556042

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3779500G>A (hg19) ; chr16:g.3729499G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729499G>A , CM000678.2:g.3729499G>A	GRCh38
NC_000016.9:g.3779500G>A , CM000678.1:g.3779500G>A	GRCh37
NC_000016.8:g.3719501G>A	NCBI36
NG_009873.1:g.155622C>T
NG_009873.2:g.156215C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5548C>T MANE Select	ENSP00000262367.5:p.Leu1850Phe
ENST00000262367.9:c.5548C>T	ENSP00000262367.5:p.Leu1850Phe
ENST00000382070.7:c.5434C>T	ENSP00000371502.3:p.Leu1812Phe
NM_001079846.1:c.5434C>T	NP_001073315.1:p.Leu1812Phe
NM_004380.2:c.5548C>T	NP_004371.2:p.Leu1850Phe
XM_005255124.3:c.5503C>T	XP_005255181.1:p.Leu1835Phe
XM_005255125.3:c.5131C>T	XP_005255182.1:p.Leu1711Phe
XM_006720848.2:c.5287C>T	XP_006720911.1:p.Leu1763Phe
XM_011522380.1:c.5494C>T	XP_011520682.1:p.Leu1832Phe
XM_011522381.1:c.4795C>T	XP_011520683.1:p.Leu1599Phe
XM_005255124.4:c.5503C>T	XP_005255181.1:p.Leu1835Phe
XM_005255125.4:c.5131C>T	XP_005255182.1:p.Leu1711Phe
XM_006720848.3:c.5287C>T	XP_006720911.1:p.Leu1763Phe
XM_011522381.2:c.4795C>T	XP_011520683.1:p.Leu1599Phe
XM_017022944.1:c.5542C>T	XP_016878433.1:p.Leu1848Phe
NM_004380.3:c.5548C>T MANE Select	NP_004371.2:p.Leu1850Phe